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1.
World J Orthop ; 14(11): 791-799, 2023 Nov 18.
Artículo en Inglés | MEDLINE | ID: mdl-38075474

RESUMEN

BACKGROUND: Supracondylar humerus fractures account for more than 60% of all elbow fractures and about 1/5 of all pediatric fractures. Unfortunately, these fractures can be associated with risk of complications including neurovascular injuries, malunions and limb deformities. Controversy exists regarding the effect of time of surgical intervention and/or level of surgeon performing the surgery on outcome of these fractures. AIM: To determine whether time of surgical intervention and/or surgeon level influence the outcomes of surgically managed pediatric supracondylar humerus fractures. METHODS: We retrospectively studied 155 pediatric patients presenting with a supracondylar humerus fracture in a level 1 trauma center from January 2006 to December 2019. The data extracted included demographic data, fracture characteristics, surgical data, and follow-up outcomes. The collected data was analyzed and P values of < 0.05 were considered statistically significant. RESULTS: Of the cohort, 11% of patients had documented post-operative complications, of which the majority occurred in surgeries performed after day time working hours and in fractures requiring open reduction. While the lowest complication rate was found in surgeries performed by pediatric orthopaedic surgeons, this did not reach statistical significance. CONCLUSION: In pediatric patients undergoing surgery for supracondylar fractures, we found a higher complication rate when surgeries were not performed during working hours. Surgeon level and training had no significant effect on the risk of post-operative complications.

2.
Cureus ; 15(11): e48940, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38106712

RESUMEN

Background Baby walkers (BWs) are popular among parents worldwide, despite safety concerns and developmental impact concerns, as they are influenced by cultural beliefs, social myths, and personal interests. This study aims to assess parental beliefs and attitudes toward the use of BWs in the Eastern region of Saudi Arabia. Materials and methods A descriptive cross-sectional study was conducted among 400 mothers in the Eastern region of Saudi Arabia. Data were collected through an online questionnaire, which included demographic information, BW usage, reasons for usage/non-usage, and awareness of the dangers and disadvantages of BWs. Descriptive statistics and chi-square tests were used for data analysis. Results Among the participants, 332 (83.0%) reported using BWs for their children. The majority of parents i.e. 237 parents (71.3%) used walkers for their child's fun and 146 parents (43.9%) used them for 1-2 hours daily. Among the reasons for non-usage, concerns about affecting the child's walking and potential injuries were most common in 29 (42.6%) and 28 (41.1%) parents, respectively. Significant associations were found between mother's age, child's birth order, age of crawling, age of independent walking, and BW usage. Forty-eight children (14.4%) who used walkers experienced injuries, including falling downstairs 20 (41.6%) and flipping over on a flat surface 21 (43.7%). Conclusion This study highlights the prevalence of BW usage and the reasons behind parental decisions in the Eastern region of Saudi Arabia. While many parents use BWs to promote early walking and provide entertainment, concerns about safety and potential developmental impacts persist.

3.
J Imaging ; 9(11)2023 Nov 06.
Artículo en Inglés | MEDLINE | ID: mdl-37998088

RESUMEN

Developmental dysplasia of the hip (DDH) is a disorder characterized by abnormal hip development that frequently manifests in infancy and early childhood. Preventing DDH from occurring relies on a timely and accurate diagnosis, which requires careful assessment by medical specialists during early X-ray scans. However, this process can be challenging for medical personnel to achieve without proper training. To address this challenge, we propose a computational framework to detect DDH in pelvic X-ray imaging of infants that utilizes a pipelined deep learning-based technique consisting of two stages: instance segmentation and keypoint detection models to measure acetabular index angle and assess DDH affliction in the presented case. The main aim of this process is to provide an objective and unified approach to DDH diagnosis. The model achieved an average pixel error of 2.862 ± 2.392 and an error range of 2.402 ± 1.963° for the acetabular angle measurement relative to the ground truth annotation. Ultimately, the deep-learning model will be integrated into the fully developed mobile application to make it easily accessible for medical specialists to test and evaluate. This will reduce the burden on medical specialists while providing an accurate and explainable DDH diagnosis for infants, thereby increasing their chances of successful treatment and recovery.

4.
Eur J Hum Genet ; 31(9): 1023-1031, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37344571

RESUMEN

BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations. Fifty-nine individuals presented with BRAT1-related RMFSL phenotype. Most of them had no psychomotor acquisition (100%), epilepsy (100%), microcephaly (91%), limb rigidity (93%), and died prematurely (93%). Thirty-eight individuals presented a non-lethal phenotype of BRAT1-related NEDCAS phenotype. Seventy-six percent of the patients in this group were able to walk and 68% were able to say at least a few words. Most of them had cerebellar ataxia (82%), axial hypotonia (79%) and cerebellar atrophy (100%). Genotype-phenotype correlations in our cohort revealed that biallelic nonsense, frameshift or inframe deletion/insertion variants result in the severe BRAT1-related RMFSL phenotype (46/46; 100%). In contrast, genotypes with at least one missense were more likely associated with NEDCAS (28/34; 82%). The phenotype of patients carrying splice variants was variable: 41% presented with RMFSL (7/17) and 59% with NEDCAS (10/17).


Asunto(s)
Epilepsia , Enfermedades Neurodegenerativas , Humanos , Proteínas Nucleares/genética , Epilepsia/genética , Fenotipo , Genotipo , Estudios de Asociación Genética , Enfermedades Neurodegenerativas/genética , Atrofia
5.
J Neurosurg Sci ; 2023 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-37158713

RESUMEN

BACKGROUND: Hydrocephalus is a highly heterogeneous multifactorial disease that arises from genetic and environmental factors. Familial genetic studies of hydrocephalus have elucidated four robustly associated hydrocephalus associated loci. This study aims to identify potential genetic causation in cases of hydrocephalus, with or without spina bifida and Dandy Walker Syndrome (DWS), using family-based rare variant association analysis of whole exome sequencing. METHODS: We performed whole exome sequencing in 143 individuals across 48 families where at least one offspring was affected with hydrocephalus (N.=27), with hydrocephalus with spina bifida (N.=21) and with DWS (N.=3), using Illumina HiSeq 2500 instrument. RESULTS: No pathogenic or putative pathogenic single-nucleotide variants were evident in the four known hydrocephalus loci in our subjects. However, after examining 73 known hydrocephalus genes previously identified from literature, we identified three potentially impactful variants from the cohort. Using a gene panel comprising variants in known neural tube defects loci, we identified a total of 1024 potentially deleterious variants, of which 797 were missense variants and 191 were frameshift variants, 36 were stop gain/loss variants. A small portion of our family pedigree analyses yielded putative genetic signals which may be responsible for hydrocephaly elated phenotypes, however the low diagnostic yield may be due to lack of capture of genetic variants in the exonic regions i.e. structural variants may only be evident from whole genome sequencing. CONCLUSIONS: We identified three potentially impactful variants from our cohort in 73 known hydrocephalus genes previously identified in literature.

7.
Medicine (Baltimore) ; 101(50): e32060, 2022 Dec 16.
Artículo en Inglés | MEDLINE | ID: mdl-36550802

RESUMEN

OBJECTIVE: This study collects what is known about the inheritance underpinnings of syndromic and non-syndromic polydactylies and highlights dactyly presentations with unknown genetic roots. This review summarizes the current information and genetics-enhanced understanding of polydactyly. BACKGROUND: There is a frequency of 0.37 to 1.2 per 1000 live births for polydactyly, which is also known as hyperdactyly. It is characterized by the presence of extra fingers. Polydactyly is caused by a failure in limb development, specifically the patterning of the developing limb bud. The phenotypic and genetic variability of polydactyly makes its etiology difficult to understand. Pre-axial polydactyly, central polydactyly (axial), and postaxial polydactyly are all examples of non-syndromic polydactyly (ulnar). An autosomal dominant disorder with varying penetrance that is mostly passed down via limb development patterning abnormalities. METHOD: A comprehensive search of MEDLINE/PubMed and other databases was followed by an evaluation of the relevant papers, with a particular focus on those published between 2000 and 2022. RESULTS: Of 747 published article related to Polydactyly from MEDLINE/PubMed search, 43 were from the last 10 years and were the focus of this review. CONCLUSION: Polydactyly is one of the most frequent congenital hand malformations. PAP is more common than PPD, whereas central polydactyly is very uncommon.


Asunto(s)
Polidactilia , Humanos , Polidactilia/genética , Dedos/anomalías , Dedos del Pie
8.
Am J Hum Genet ; 109(8): 1421-1435, 2022 08 04.
Artículo en Inglés | MEDLINE | ID: mdl-35830857

RESUMEN

PPFIBP1 encodes for the liprin-ß1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster. By exome and genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants in 16 individuals from 12 unrelated families. The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature, feeding difficulties, impaired vision, and congenital heart defects. Neuroimaging revealed abnormalities of brain morphology with leukoencephalopathy, ventriculomegaly, cortical abnormalities, and intracranial periventricular calcifications as major features. In a fetus with intracranial calcifications, we identified a rare homozygous missense variant that by structural analysis was predicted to disturb the topology of the SAM domain region that is essential for protein-protein interaction. For further insight into the effects of PPFIBP1 loss of function, we performed automated behavioral phenotyping of a Caenorhabditis elegans PPFIBP1/hlb-1 knockout model, which revealed defects in spontaneous and light-induced behavior and confirmed resistance to the acetylcholinesterase inhibitor aldicarb, suggesting a defect in the neuronal presynaptic zone. In conclusion, we establish bi-allelic loss-of-function variants in PPFIBP1 as a cause of an autosomal recessive severe neurodevelopmental disorder with early-onset epilepsy, microcephaly, and periventricular calcifications.


Asunto(s)
Epilepsia , Microcefalia , Malformaciones del Sistema Nervioso , Trastornos del Neurodesarrollo , Acetilcolinesterasa/genética , Animales , Drosophila melanogaster/genética , Epilepsia/genética , Pérdida de Heterocigocidad , Microcefalia/genética , Trastornos del Neurodesarrollo/genética , Linaje
9.
PLoS One ; 17(4): e0267449, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35452477

RESUMEN

BACKGROUND: Blood transfusion is a common, essential procedure when treating many different medical and surgical conditions. Efficient utilization of blood bank facilities by frequent auditing is crucial; however, few studies have examined blood utilization in Saudi Arabia. We aimed to review the blood ordering patterns and transfusion practices, and blood bank audit effectiveness at a single center in Saudi Arabia and compare our results with those of a similar study performed in the same center 20 years ago. MATERIALS AND METHODS: This study was a retrospective descriptive chart review of all healthy blood donors and recipients from January 1, 2016, to December 31, 2020. We evaluated the crossmatching-to-transfusion ratio (C/T) as an indicator of blood bank utilization and compared the findings with those of the previous study. We also evaluated changes in blood bank utilization during the coronavirus disease 2019 pandemic. RESULTS: Findings from 27,414 donors (men, 94.9%; mean age, 32.2 + 9.6 years) showed a 71% increase in blood donations compared to that of 2000. The donations gradually increased over the years, peaking just before COVID-19 pandemic started in March 2020. For 3,836 patients, 13,324 units of blood were crossmatched (average, 3.47 crossmatch/patient), with 23% of the crossmatch requests from surgical departments. The average C/T ratio, transfusion index, and transfusion probability (T%) were 1.37, 2.55, and 73.2%, respectively. The C/T ratio decreased by 54% between 2000 and 2020. During the pandemic, crossmatching decreased by 26% between 2019 and 2020, but with comparable C/T ratio in 2019 (1.45) and 2020 (1.39). CONCLUSION: Our hospital blood bank utilization improved over the past 20 years, showing increased donations, reduced C/T ratio, and increased T%. This improvement emphasizes the importance of blood donation campaigns, blood bank auditing, restrictive transfusion guidelines, and physician education.


Asunto(s)
COVID-19 , Pandemias , Adulto , Bancos de Sangre , Donantes de Sangre , COVID-19/epidemiología , Hospitales Universitarios , Humanos , Masculino , Indicadores de Calidad de la Atención de Salud , Estudios Retrospectivos , Arabia Saudita/epidemiología , Adulto Joven
11.
BMJ Open ; 12(3): e053722, 2022 03 11.
Artículo en Inglés | MEDLINE | ID: mdl-35277403

RESUMEN

OBJECTIVE: To describe the risk factors, clinical profile and outcomes of COVID-19 in the paediatric population. DESIGN: Multicentre, retrospective observational study. SETTING: Four tertiary hospitals in Saudi Arabia. PATIENTS: We recruited 390 paediatric patients aged 0-18 years who presented from March to December 2020 and tested positive for COVID-19 on PCR. MAIN OUTCOME MEASURES: We retrospectively analysed medical records for sociodemographics, health indicators, clinical presentations, laboratory findings, clinical complications, and outcomes. RESULTS: The mean participant age was 5.66±4.90 years, and the mean hospital stay was 2.17±3.48 days. Forty patients, mostly school-aged children (16, 40.00%; p=0.005) and children with comorbidities (25, 62.50%; p<0.001), received more than just supportive care. Complications were seen in 15 (3.9%) patients, bacterial infection being the most common (6, 40.00%). Patients presented with dyspnoea (OR 6.89; 95% CI 2.89 to 20.72), abnormal chest radiographs (OR 6.11; 95% CI 1.26 to 29.38), lethargy (OR 9.04; 95% CI 2.91 to 28.06) and elevated ferritin (OR 14.21; 95% CI 4.18 to 48.37) and D-dimer (OR 48.40; 95% CI 14.32 to 163.62), with higher odds of developing complications. The odds of paediatric intensive care unit (ICU) admission were higher for patients with dyspnoea (adjusted OR 4.66; 95% CI 1.24 to 17.50) and elevated white blood cell count (adjusted OR 3.54; 95% CI 1.02 to 12.30). CONCLUSIONS: COVID-19 complications were limited among our patients. However, dyspnoea, abnormal chest radiographs, lethargy and elevated ferritin and D-dimer were associated with an increased risk of complications. Dyspnoea, leucocytosis, comorbidities and abnormal chest radiographs at presentation increased the risk of ICU admission.


Asunto(s)
COVID-19 , Adolescente , COVID-19/epidemiología , Niño , Preescolar , Hospitalización , Humanos , Lactante , Recién Nacido , Estudios Retrospectivos , Factores de Riesgo , Arabia Saudita/epidemiología
12.
Children (Basel) ; 8(10)2021 Sep 23.
Artículo en Inglés | MEDLINE | ID: mdl-34682101

RESUMEN

Congenital hyperinsulinism (CHI) is characterized by dysregulated insulin secretion, resulting in severe hypoglycemia. Mutations in the ABCC8 and KCNJ11 genes encoding KATP channels in beta cells of the pancreas are common among patients with CHI. Autosomal recessive CHI with diffuse involvement is the most common type of CHI among Saudi patients. It is relatively common for patients with autosomal recessive CHI to be medically unresponsive and undergo pancreatectomy. In this case report, we describe novel compound heterozygous variants in the ABCC8 gene in a Saudi infant that caused diazoxide-unresponsive CHI. The variants included a monoallelic paternally inherited variant that has been previously reported to cause a focal form of CHI and a maternally inherited variant of unknown significance (VUS). The severity of CHI in this patient was mild over the one-year follow-up period, with a near-optimal glycemic response on a low dose of octreotide. We suspected an atypical subtype of histological involvement in the patient. In this report, we highlight the phenotypic spectrum of novel compound heterozygous variants in a patient with CHI and consider that the report can help establish the pathogenicity of the VUS.

13.
Med Arch ; 75(3): 188-193, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34483448

RESUMEN

BACKGROUND: Thrombosis directly affects the quality of life with increased mortality. The RPL5 (L5) gene on intron 6 on chromosome 1p22, rs6604026 is associated with multiple sclerosis risk, whereas RPL9 (L9) on 8 exons on chromosome 4p14 has been documented so far as being an essential involvement in the proliferation of protein synthesized cells mostly by gene products. OBJECTIVE: The aim of this work was to assess genetic variants of RPL5 and RPL9 and thrombosis to characterize their role in the diagnosis of thrombosis among the Saudi population. METHODS: The cross-sectional study involved 100 Saudi patients diagnosed with thrombosis (arterial or venous) in 50 healthy individuals as controls in the same age and sex groups. Primers were designed RPL5 and RPL9 for molecular analysis. The Sanger System ABI-3730xL (Hong Kong) automatic sequencing was used for DNA sequencing. Statistical analysis was performed using the Prism 5 and SPSS version-21 programs. RESULTS: The male / female age ratio was 66.7 / 57.4, and the mean age was 61.2 years. Most of the patients were self-identifiable and without a previous history of thrombosis (61.0%). Most of the patients had just been diagnosed, that is, in the last five years (74.0%), about 43% of the patients underwent treatment using combination therapy (Aspirin and oral anticoagulants). New gene variants of RPL5 (5 SNPs) and RPL9 (9 SNPs) were detected in Saudi thrombotic patients. CONCLUSION: Mutations in RPL5 and RPL9 were reported in all thrombotic patients, represented by a new variant of the ribosomal protein gene and correlated with thrombosis in the Saudi population. These results may reflect an association between the ribosomal protein SNP gene and the incidence and progression of thrombosis in the Saudi population.


Asunto(s)
Calidad de Vida , Trombosis , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proteínas Ribosómicas , Arabia Saudita/epidemiología , Trombosis/genética
14.
Saudi Med J ; 42(9): 969-974, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34470834

RESUMEN

OBJECTIVES: To identify ribosome protein L5 gene variants and the risk of hepatic vein thrombosis in Saudi patients. METHODS: A case-control study was conducted during the period of May 2018 to September 2019. Sixty-five patient cases of hepatic vein thrombosis (HVT) were chosen, and 50 healthy individuals of the same ages and both gender were set as a control group. The genotype of the gene RPL5 was determined by PCR please provide abbreviation in full and capillary electrophoresis. Sanger sequencing for genetically screened variants was applied for the RPL5 gene. RESULTS: Alleles A at variant rs182018447 and T allele at variant rs559377519 were strongly corelated (p=0.009 and p=0.037, respectively) with the risk of HVT. The genotype frequencies of the RPL5 gene, the A/A genotypes at rs182018447 and T/T at rs559377519 were associated with HVT (p=0.000 and p=0.004; respectively) and an increase in risk for HVT among these patients. Please rephrase the highlighted text without using the word respectively. CONCLUSION: Our findings indicate that the 5 genetic novel variants examined in the RPL5 gene were associated with a risk of HVT in all our Saudi cases. Additionally, the A/A at rs182018447 and T/T at rs559377519 genotypes were substantially susceptible to HVT in all these patients.


Asunto(s)
Síndrome de Budd-Chiari , Proteínas Ribosómicas/genética , Alelos , Estudios de Casos y Controles , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Polimorfismo de Nucleótido Simple , Arabia Saudita/epidemiología
15.
Genet Med ; 23(11): 2138-2149, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34244665

RESUMEN

PURPOSE: We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition. METHODS: We performed a detailed clinical characterization of 19 individuals from nine unrelated, consanguineous families with a neurodevelopmental disorder. We used genome/exome sequencing approaches, linkage and cosegregation analyses to identify disease-causing variants, and we performed three-dimensional molecular in silico analysis to predict causality of variants where applicable. RESULTS: In all affected individuals who presented with a neurodevelopmental syndrome with progressive microcephaly, seizures, and intellectual disability we identified biallelic disease-causing variants in Protocadherin-gamma-C4 (PCDHGC4). Five variants were predicted to induce premature protein truncation leading to a loss of PCDHGC4 function. The three detected missense variants were located in extracellular cadherin (EC) domains EC5 and EC6 of PCDHGC4, and in silico analysis of the affected residues showed that two of these substitutions were predicted to influence the Ca2+-binding affinity, which is essential for multimerization of the protein, whereas the third missense variant directly influenced the cis-dimerization interface of PCDHGC4. CONCLUSION: We show that biallelic variants in PCDHGC4 are causing a novel autosomal recessive neurodevelopmental disorder and link PCDHGC4 as a member of the clustered PCDH family to a Mendelian disorder in humans.


Asunto(s)
Discapacidad Intelectual , Microcefalia , Trastornos del Neurodesarrollo , Proteínas Relacionadas con las Cadherinas , Cadherinas/genética , Humanos , Discapacidad Intelectual/genética , Microcefalia/genética , Trastornos del Neurodesarrollo/genética , Linaje , Fenotipo , Convulsiones/genética
16.
J Multidiscip Healthc ; 13: 1507-1516, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33204099

RESUMEN

PURPOSE: Currently, several scoring systems for predicting mortality in severely ill children who require treatment in a pediatric intensive care unit (PICU) have been established. However, despite providing high-quality care, children might develop complications that can cause rapid deterioration in health status and can lead to death. Hence, this study aimed to establish a simple early predictive mortality (SEPM) model with high specificity in identifying severely ill children who would possibly benefit from extensive mechanical ventilation during PICU admission. PATIENTS AND METHODS: This is a retrospective longitudinal study that included pediatric patients aged older than two weeks who were on mechanical ventilation and were admitted to the PICU of King Fahd Hospital of the University from January 2015 to December 2019. RESULTS: In total, 400 pediatric patients were included in this study. The mortality rate of children on mechanical ventilation was 28.90%, and most deaths were associated with respiratory (n = 124 [31%]), cardiovascular (n = 76 [19%]), and neurological (n = 68 [17%]) causes. The SEPM model was reported to be effective in predicting mortality, with an accuracy, specificity, and sensitivity of 92.5%, 97.31%, and 66.15%, respectively. Moreover, the accuracy, specificity, and sensitivity of the Pediatric Risk of Mortality (PRISM) III score in predicting mortality was 95.25%, 98.51%, and 78.46%, respectively. CONCLUSION: The SEPM model had a high specificity for mortality prediction. In this model, only six clinical predictors were used, which might be easily obtained in the early period of PICU admission. The ability of the SEPM model and the PRISM III score in predicting mortality in severely ill children was comparable. However, the accuracy of the newly established model in other settings should be validated, and a prospective longitudinal study that considers the effect of the treatment on the model's predictive ability must be conducted.

17.
Genet Med ; 22(6): 1051-1060, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32055034

RESUMEN

PURPOSE: Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly. METHODS: Detailed phenotypic and genomic analysis of patients with ciliopathies, and functional characterization of novel candidate genes. RESULTS: In this study, we describe 125 families with ciliopathies and show that deleterious variants in previously reported genes, including cryptic splicing variants, account for 87% of cases. Additionally, we further support a number of previously reported candidate genes (BBIP1, MAPKBP1, PDE6D, and WDPCP), and propose nine novel candidate genes (CCDC67, CCDC96, CCDC172, CEP295, FAM166B, LRRC34, TMEM17, TTC6, and TTC23), three of which (LRRC34, TTC6, and TTC23) are supported by functional assays that we performed on available patient-derived fibroblasts. From a phenotypic perspective, we expand the phenomenon of allelism that characterizes ciliopathies by describing novel associations including WDR19-related Stargardt disease and SCLT1- and CEP164-related Bardet-Biedl syndrome. CONCLUSION: In this cohort of phenotypically and molecularly characterized ciliopathies, we draw important lessons that inform the clinical management and the diagnostics of this class of disorders as well as their basic biology.


Asunto(s)
Síndrome de Bardet-Biedl , Ciliopatías , Alelos , Síndrome de Bardet-Biedl/genética , Cilios/genética , Ciliopatías/genética , Humanos , Canales de Sodio
18.
Cureus ; 12(1): e6725, 2020 Jan 21.
Artículo en Inglés | MEDLINE | ID: mdl-32015934

RESUMEN

Osteopetrosis is a rare genetic disease of bone resorption. It includes a variety of hereditary skeletal disorders that have the main radiographic feature of increased bone density and thickness due to differentiation or functional defects in osteoclast. The clinical presentation varies widely based on the type of osteopetrosis and ranges in severity from asymptomatic to a fatal course. Our case is of the infantile malignant osteopetrosis (IMOP) form. It is inherited as an autosomal recessive pattern that generally starts in intrauterine life and manifests at birth or early childhood. It is the most severe form and has an incidence of 1 in 250,000 births. The patient presented at the age of two months with a history of recurrent fever, recurrent pneumonia, developmental delay, and infantile spasms. Upon examination, she was found to have hepatosplenomegaly, axial hypotonia, limb spasticity, and visual impairment. Genetic testing revealed a homozygous variant of OSTM1 gene, which is a known Saudi mutation of autosomal recessive osteopetrosis (ARO). IMOP should be considered as a rare differential of hepatosplenomegaly. Early diagnosis by clinical picture, imaging, and genetic testing is important to direct the appropriate management in order to prevent disease progression before the irreversible neurological sequelae occur. Patients should be managed by a comprehensive approach, and currently, hematopoietic stem cell transplantation (HSCT) provides a better outcome for IMOP patients.

19.
BMC Musculoskelet Disord ; 20(1): 541, 2019 Nov 14.
Artículo en Inglés | MEDLINE | ID: mdl-31727049

RESUMEN

BACKGROUND: Musculoskeletal symptoms account for the majority of work-related illnesses resulting in a significant economic burden on society. Computer users are subject to unique repetitive strains that predispose them to musculoskeletal symptoms. In the digitalized field of radiology, radiologists spend long hours interpreting medical images on computers. This study aimed to determine the prevalence of musculoskeletal symptoms among radiologists in Saudi Arabia and their contributing factors. METHODS: An online survey was sent to radiologists in all hospitals (academic, public and private) in the major cities of the Eastern Province of Saudi Arabia covering demographic characteristics, workload (e.g. the time spent at a computer workstation), and workstation environments including the number of monitors as well as the adjustability of the height of the workstation and the viewing distance. This survey of 263 radiologists was conducted in April 2019. It included an evaluation of musculoskeletal symptoms using the Nordic Musculoskeletal Questionnaire. The study outcome was the presence of disabling musculoskeletal symptoms in any body region, which restricted the performance of normal activities in the last 12 months. Results were analyzed descriptively using a Chi-square test and logistic regression analysis to estimate the odd ratio of experiencing disabling musculoskeletal symptoms in the last 12 months. RESULTS: The survey was completed by 198 participants (111 men and 87 women) with a response rate of 75.3%. Most participants (71.2%) were aged below 40 years. A multivariate logistic regression analysis revealed being a female radiologist (OR = 2.7; 95% CI: 1.2-6.5), aged 30-39 years (OR = 4.1; 95% CI: 1.1-15.3), and predominantly reviewing computed tomography (CT) images (OR = 4.1; 95% CI: 1.4-12.3) or ultrasound scans (OR = 5.9; 95% CI: 1.4-25.3) were associated with higher prevalence of disabling musculoskeletal symptoms, compared to those aged below 30 years and those who reviewed various imaging modalities, respectively. CONCLUSIONS: Musculoskeletal symptoms are common among radiologists with lower back and neck pain being the most frequent complaints. Being a female radiologist, aged 30-39 years, and reviewing CT or ultrasound scans were associated with higher rates of disabling musculoskeletal symptoms.


Asunto(s)
Enfermedades Musculoesqueléticas/epidemiología , Enfermedades Profesionales/epidemiología , Salud Laboral , Radiólogos , Adulto , Estudios Transversales , Evaluación de la Discapacidad , Ergonomía , Femenino , Humanos , Perfil Laboral , Masculino , Persona de Mediana Edad , Enfermedades Musculoesqueléticas/diagnóstico , Enfermedades Musculoesqueléticas/fisiopatología , Enfermedades Profesionales/diagnóstico , Enfermedades Profesionales/fisiopatología , Prevalencia , Medición de Riesgo , Factores de Riesgo , Arabia Saudita/epidemiología , Carga de Trabajo
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